Collect pilot data on the performance of the ICARS in patients younger than 10 years of age, as well as to introduce definitions for the various clinically defined stages of AT, and attempt to develop descriptors of change that could help in the assessment of patients longitudinally.

Eligibility

Ages Eligible for Study:

6 Years to 18 Years

Genders Eligible for Study:

Both

Accepts Healthy Volunteers:

No

Sampling Method:

Non-Probability Sample

Study Population

Known patients with ataxia/ataxia telangiectasia

Criteria

Inclusion criteria

Patients aged 6-18 years with diagnosed with ataxia, preferably AT will be included. The diagnosis of AT will be made based on the criteria: typical clinical picture plus one of the following: 1. a proven mutation in the ATM gene 2. Deficient ATM protein proven by Western blotting 3. Elevated α-fetoprotein, cerebellar atrophy on MRI and immune deficiency/ chromosomal breakage/ T- cell lymphoreticular malignancy.

Children aged 6-18 years with suspected AT (fulfilling partially the above criteria will be included)

Children aged 6-18 years with AT like disease, with or without proven mutation in the MRE11 gene will be included

Children aged 6-18 years of age with ataxia of other known or unknown etiologies might be included, but their total number should not exceed 20% of the cohort in each site

Contacts and Locations

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study.
To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below.
For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01942850